| Accession | HsInv0118 | Region of the inversion | chr10:46443109-46479588 |
| Status | False | Prediction type | Simple |
| Estimated Inversion Size | 36,479 bp | Supporting predictions | 9 |
| Inverted allele frequency | NA | Mechanism of origin | NA |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr10:46443109-46443110 |
| Ancestral orientation | NA | Breakpoint 2 | chr10:46479587-46479588 |
| Comments | False inversion prediction caused by HG18 assembly error
|
||
|
|
 |
|
|
Human Polymorphic Inversion DataBase
|
General information
- Region map
+ Predictions
| Description | Discovery, genotyping and phasing of structural variants detected from Illumina whole genome sequencing data of 769 individuals from 250 Dutch families belonging to the GoNL project | ||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||
| Name | |||
| Breakpoint 1 | chr10:46443024-46443024 | Breakpoint 2 | chr10:46479498-46479498 |
| Individuals | |||
| Description | Identification and resolution of sequence gaps and structural variants in the euchromatic regions of the reference human assembly through single-molecule, real-time (SMRT) DNA sequencing of an haploid human genome (CHM1) | ||||||||||||||
| Method | Long-read sequencing | ||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr10:46443108-46443108 | Breakpoint 2 | chr10:46479588-46479588 | ||||
| Individuals |
| ||||||
| Description | Paired-end mapping analysis of the J. Craig Venter genome (HuRef) | ||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr10:46430325-46444557 | Breakpoint 2 | chr10:46476324-46482213 | ||||
| Individuals |
| ||||||
| Description | Next generation sequencing and analysis by paired-end mapping of an individual genome of African origin | ||||||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr10:46443107-46443146 | Breakpoint 2 | chr10:46479583-46479585 | ||||
| Individuals |
| ||||||
| Comments | Prediction within region overlapping more than 90% of their length with simple repeats, low complexity repeats, or satellite repeats | ||||||
| Description | Next generation sequencing and analysis by paired-end mapping of a Korean individual genome | ||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr10:46443102-46443343 | Breakpoint 2 | chr10:46479584-46479714 | ||||
| Individuals |
| ||||||
| Description | Paired-end mapping of 3-kb fragments in an African and in a putatively European individual with some predictions validated by PCR, fiber-FISH or comparison with Celera assembly | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| Name | |||||||||
| Breakpoint 1 | chr10:46442531-46442531 | Breakpoint 2 | chr10:46477704-46477704 | ||||||
| Individuals |
| ||||||||
| Name | |||||||||
| Breakpoint 1 | chr10:46445112-46445112 | Breakpoint 2 | chr10:46480066-46480066 | ||||||
| Individuals |
| ||||||||
| Name | |||||||||
| Breakpoint 1 | chr10:46447424-46447424 | Breakpoint 2 | chr10:46479581-46479581 | ||||||
| Individuals |
| ||||||||
- Martinez-Fundichely et al. 2014 (in preparation)
| Description | Accurate prediction of inversions in the human genome from Kidd et al. 2008 fosmid paired-end mapping data using the GRIAL algorithm, and validation of some predictions by sequence analysis and PCR | ||||||||||||||||||||||||||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||||||||||||||||||||||||||
| Name | |||||||||||||||||||||||
| Breakpoint 1 | chr10:46437093-46444045 | Breakpoint 2 | chr10:46479186-46480756 | ||||||||||||||||||||
| D/C Score | NA | Disc. Support Prob. | 0.01378 | ||||||||||||||||||||
| Support | 55 probes  | ||||||||||||||||||||||
| Individuals |
| ||||||||||||||||||||||
+ Validation and genotyping
| Description | Discovery, genotyping and phasing of structural variants detected from Illumina whole genome sequencing data of 769 individuals from 250 Dutch families belonging to the GoNL project | ||||
| Method | Polymerase chain reaction (PCR) |
| Status | Inconclusive |
| Comment | Tested in sample A105c. PCR assay failed. |
| Description | Identification and resolution of sequence gaps and structural variants in the euchromatic regions of the reference human assembly through single-molecule, real-time (SMRT) DNA sequencing of an haploid human genome (CHM1) | ||||
| Method | Sequence analysis |
| Status | Validated |
| Comment | Inversion validated by analysis of CH17-351H10 BAC sequence (AC255441) obtained with the Illumina Nextera system |
| Description | Paired-end mapping of 3-kb fragments in an African and in a putatively European individual with some predictions validated by PCR, fiber-FISH or comparison with Celera assembly | ||
| Method | Polymerase chain reaction (PCR) |
| Status | Validated |
-Genome Reference Consortium
| Description | Update of genome sequence assemblies to correct errors and better represent the existing genome diversity | ||
| Method | Genome sequence assembly update |
| Status | False |
-Martinez-Fundichely et al. 2014 (in preparation)
| Description | Accurate prediction of inversions in the human genome from Kidd et al. 2008 fosmid paired-end mapping data using the GRIAL algorithm, and validation of some predictions by sequence analysis and PCR | ||
| Method | Sequence analysis |
| Status | Breakpoint refinement |
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr10:46443109-46443110 | Breakpoint 2 | chr10:46479587-46479588 | ||
| Study | Martinez-Fundichely et al. 2014 (in preparation) | ||||
| Description | Breakpoints defined by comparison with the updated clone sequence (AL732434.21) | ||||
| Definition method | Manual curation | ||||
| Mechanism of origin |
NA
|
||||
| Flexibility | 12.49 | GC content | 0.47 | Stability | 1.77 |
| Comments |
HG18 genome assembly error probably caused by forced sequence joins in two regions of simple repeats with low quality |
||
+ Evolutionary history
| Ancestral allele | NA | Age | ND |
| Derived allele | NA | Origin | ND |
+ Orientation in other species
Not defined
+ Age
Not defined
+ Origin
Not defined
+ Functional effects
No genes disrupted by the inversion breakpoints
+ Inversion phenotypical effects
Not defined
+ Report history
- 2017-09-29 00:00:00
| Breakpoint 1 | chr10:46442743-46443702 | Breakpoint 2 | chr10:46479186-46480184 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2017-09-29 00:00:00
| Breakpoint 1 | chr10:46442743-46443702 | Breakpoint 2 | chr10:46479186-46480184 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:14:48
| Breakpoint 1 | chr10:46442743-46443702 | Breakpoint 2 | chr10:46479186-46480184 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:14:48
| Breakpoint 1 | chr10:46442743-46443702 | Breakpoint 2 | chr10:46479186-46480184 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:14:48
| Breakpoint 1 | chr10:46442743-46443702 | Breakpoint 2 | chr10:46479186-46480184 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:14:48
| Breakpoint 1 | chr10:46443109-46443110 | Breakpoint 2 | chr10:46479587-46479588 |
| Study | Martinez-Fundichely et al. 2014 (in preparation) | ||
| Assembly | hg18 | ||
| Description | Breakpoints defined by comparison with the updated clone sequence (AL732434.21) | ||
| Definition method | Manual curation | ||
Hosted by the Comparative and Functional Genomics group at the Universitat Autònoma de Barcelona
Contact us at invfestdb@uab.cat
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.